Results 21 to 30 of about 1,902 (167)

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly. [PDF]

BMC Med Genomics
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP ...
Lyulcheva-Bennett E, Kershaw C, Baker E, Gillies S, McCarthy E, Higgs J, Canham N, Hennigan D, Parks C, Bennett D.   +9 more
europepmc   +2 more sources

Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression. [PDF]

Cell Death Differ
Abstract Alternative splicing plays a pivotal role in various facets of organogenesis, immune response, and tumorigenesis. Medulloblastoma represents a prevalent childhood brain tumor, with approximately one-third classified as the Sonic Hedgehog (SHH) subgroup.
Li Y, Chen L, Xue S, Song Z, Liu H, Li H, Shen W, Zhang C, Wu H.   +8 more
europepmc   +4 more sources

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
The formation of mature mRNA is inseparable from the processing of RNA precursors and splicing by the spliceosome. The spliceosome is a multi‑protein complex composed of five small nuclear ribonucleoproteins. Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is a component of spliceosome complex that is involved in the reorganization of the
Yin A, Zhu Q, Chen Y, Wang J.
europepmc   +3 more sources

High RIG-I and EFTUD2 expression predicts poor survival in endometrial cancer

Journal of Cancer Research and Clinical Oncology, 2022
Abstract Purpose Endometrial cancer is the most common gynecological malignancy. The helicase RIG-I, a part of the innate immune system, and EFTUD2, a splicing factor which can upregulate RIG-I expression, are shown to influence tumor growth and disease progression in several malignancies.
Beyer, Susanne, Müller, Lena, Mitter, Sophie, Keilmann, Lucia, Meister, Sarah, Buschmann, Christina, Kraus, Fabian, Topalov, Nicole E., Czogalla, Bastian, Trillsch, Fabian, Burges, Alexander, Mahner, Sven, Schmoeckel, Elisa, Löb, Sanja, Corradini, Stefanie, Kessler, Mirjana, Jeschke, Udo, Kolben, Thomas   +17 more
openaire   +3 more sources

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant disorder caused by pathogenic variants in the EFTUD2 gene, presenting with craniofacial anomalies, microcephaly, and systemic abnormalities. Despite several reported cases, the genetic and molecular mechanisms underlying MFDM remain inadequately understood ...
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +2 more sources

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly [PDF]

The American Journal of Human Genetics, 2012
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals.
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Genevieve, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jurgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Boehm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M., Consortium, F.O.R.G.E. Canada   +27 more
openaire   +3 more sources

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractHeterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.
Daniela V, Luquetti, Anne V, Hing, Mark J, Rieder, Deborah A, Nickerson, Emily H, Turner, Joshua, Smith, Sarah, Park, Michael L, Cunningham   +7 more
openaire   +2 more sources

Prognostic biomarkers based on GUF1, EFTUD2 and GSPT1 targets affecting migration of gastric cancer cells. [PDF]

Transl Cancer Res
Eukaryotic elongation factor 1 alpha 2 (eEF1A2) is a protein coding gene which is involved in tumor development and progression in several types of human cancer, but little is known about the function of eEF1A2 proteins in gastric cancer (GC). This study aimed to investigate the effects of GUF1, EFTUD2 and GSPT1 on the migration of GC cells.The ...
Ma H, Suo L, Zhao J, Ma R, Wang Q, Liu J, Qiao J, Wu J, An J, Liu Y, Xing Y, Wang H, Su Z.   +12 more
europepmc   +3 more sources

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing
So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi   +3 more
doaj   +1 more source

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

Molecular Case Studies, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM.
Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro   +7 more
openaire   +3 more sources